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Suppressor mutations may occur within the gene carrying the primary mutation (intragenic suppressors) or in another gene, generating a phenotype that counterbalances the effect of the primary mutation.
Suppressor mutations are secondary mutations which restore the original phenotype in an organism that has undergone a primary mutation.
Kinoshita et al. reported that Asn655Lys mutation at exon 13 which was observed as a primary mutation in a sporadic GIST was imatinib-sensitive [31].
This combination of the cancer primary mutation L858R and drug resistance gatekeeper mutation T790M is potently inhibited by 30% of the ALK inhibitors.
In spite of environmental factors, the discovery of nuclear modifier genes provides additional information about pathways in which the primary mutation functions, as well as new entry points for understanding the pathological effects of certain disease gene.
We have discovered that modifying T-20 to include S138A (T-20S138A) allows it to efficiently block wild-type and T20-resistant viruses, by a mechanism that involves improved binding of T-20S138A to the N-HR that contains the N43D primary mutation.
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With regard to the primary mutations, patients with KIT exon 9-mutated GISTs and wild-type GISTs receive more benefit from sunitinib treatment than do those with KIT exon 11 mutations.
Primary mutations in mtDNA-encoded proteins, namely subunits of respiratory chain complexes, also have been linked to inherited diseases.
However, primary mutations that lead to its constitutive activation are the causal oncogenic driver of gastrointestinal stromal tumours (GISTs).
The genetics approach to uncovering the causes of disease has focused mainly on finding the underlying primary mutations, with diseased individuals playing the leading role in this discovery.
First, most of the primary mutations cluster in the vicinity of the incoming nucleotide and act by directly affecting the position or stability of the bound substrate, template, or primer.
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